De Novo mutations in the β‐tubulin gene TUBB4: From DYT4 to leukoencephalopathy with hypomyelination with atrophy of the basal ganglia and cerebellum (H‐ABC syndrome)

descriptionPublicationkeyboard_double_arrow_right Article 01 Sep 2013 English Publisher:WileyJournal:Movement Disorders, volume 28, pages 1,343-1,343 (issn: 0885-3185, eissn: 1531-8257,

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Authors: Athanasia, Alexoudi; Susanne A, Schneider;

doi: 10.1002/mds.25565

pmid: 24013879

De Novo mutations in the β‐tubulin gene TUBB4: From DYT4 to leukoencephalopathy with hypomyelination with atrophy of the basal ganglia and cerebellum (H‐ABC syndrome)

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Kiel University
Germany

Keywords

Male, Models, Molecular, Leukoencephalopathies, Protein Conformation, Tubulin, Cerebellum, Humans, Female, Basal Ganglia

6 Research products, page 1 of 1

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
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De Novo mutations in the β‐tubulin gene TUBB4: From DYT4 to leukoencephalopathy with hypomyelination with atrophy of the basal ganglia and cerebellum (H‐ABC syndrome)

De Novo mutations in the β‐tubulin gene TUBB4: From DYT4 to leukoencephalopathy with hypomyelination with atrophy of the basal ganglia and cerebellum (H‐ABC syndrome)

6 Research products, page 1 of 1

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Dystonia‐Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

Advances in genetic studies for movement disorders

H‐ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

A Direct Interaction between Leucine-rich Repeat Kinase 2 and Specific β-Tubulin Isoforms Regulates Tubulin Acetylation